Table 1.

Classification in 46,XY DSD patients

	1. Gonadal dysgenesis	2. Disorder of androgen synthesis	3. Disorder of androgen action (androgen receptor defect)	4. Leydig cell hypoplasia (LH receptor deficiency)	5. Hypogonadotropic hypogonadism	6. 5-Alpha-reductase deficiency	7. Idiopathic without genetic testing	8. Idiopathic with genetic testing	9. Unclear
AMH	Low	Normal	Normal	Normal	Normal	Normal	Normal	Normal	Abnormalities in the biochemical results, which cannot be explained by one of the previous categories
Testosterone	Low	Low	Normal or elevated	Low, precursors also low	Low	Normal or elevated	Normal	Normal
DHT after hCG stimulation	Low	Low	Normal or elevated	Low	Low	Low	Normal	Normal
Testosterone after hCG stimulation	Low	Low or intermediate with elevated precursors	Increased	Low	Increased DHT and testosterone	High ratio of testosterone/DHT	Normal	Normal
Presence of uterus on ultrasound	Yes	No	No	No	No	No	No	No

AMH, anti-müllerian hormone; DHT, dihydrotestosterone; hCG, human chorionic gonadotropin.